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    DLGAP3 DLG associated protein 3 [ Homo sapiens (human) ]

    Gene ID: 58512, updated on 28-Oct-2024

    Summary

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    Official Symbol
    DLGAP3provided by HGNC
    Official Full Name
    DLG associated protein 3provided by HGNC
    Primary source
    HGNC:HGNC:30368
    See related
    Ensembl:ENSG00000116544 MIM:611413; AllianceGenome:HGNC:30368
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DAP3; SAPAP3; SPAPA3
    Summary
    Predicted to enable PDZ domain binding activity; molecular adaptor activity; and scaffold protein binding activity. Predicted to be involved in protein-containing complex assembly. Predicted to be located in plasma membrane. Predicted to be active in several cellular components, including cholinergic synapse; glutamatergic synapse; and neuromuscular junction. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in brain (RPKM 6.5) and testis (RPKM 1.3) See more
    Orthologs
    mouse all
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    Genomic context

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    See DLGAP3 in Genome Data Viewer
    Location:
    1p34.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (34865436..34929650, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (34728067..34792309, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (35331037..35395251, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr1:35259863-35260017 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 716 Neighboring gene gap junction protein alpha 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:35307996-35308683 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:35312807-35313492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 717 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:35319252-35320122 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 629 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 719 Neighboring gene small integral membrane protein 12 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:35350327-35351322 Neighboring gene MPRA-validated peak171 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 631 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 634 Neighboring gene G protein-coupled receptor 199, pseudogene Neighboring gene transmembrane protein 35B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Sapap3 and pathological grooming in humans: Results from the OCD collaborative genetics study. Bienvenu OJ, et al. Am J Med Genet B Neuropsychiatr Genet, 2009 Jul 5. PMID 19051237, Free PMC Article
    2. Multiple rare SAPAP3 missense variants in trichotillomania and OCD. Züchner S, et al. Mol Psychiatry, 2009 Jan. PMID 19096451, Free PMC Article
    3. Family-based genetic association study of DLGAP3 in Tourette Syndrome. Crane J, et al. Am J Med Genet B Neuropsychiatr Genet, 2011 Jan. PMID 21184590, Free PMC Article
    4. Investigating SAPAP3 variants in the etiology of obsessive-compulsive disorder and trichotillomania in the South African white population. Boardman L, et al. Compr Psychiatry, 2011 Mar-Apr. PMID 21295225
    5. Exonic resequencing of the DLGAP3 gene as a candidate gene for schizophrenia. Li JM, et al. Psychiatry Res, 2013 Jun 30. PMID 23414653

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Valence processing alterations in SAPAP3 knockout mice and human OCD.
      Title: Valence processing alterations in SAPAP3 knockout mice and human OCD.
    2. SAPAP3 regulates epileptic seizures involving GluN2A in post-synaptic densities.
      Title: SAPAP3 regulates epileptic seizures involving GluN2A in post-synaptic densities.
    3. several rare variants of the DLGAP3 gene were found in this study which may be associated with schizophrenia.
      Title: Exonic resequencing of the DLGAP3 gene as a candidate gene for schizophrenia.
    4. This study provides suggestive evidence that DLGAP3 and its interactive effect with SLC1A1 might be involved in susceptibility to developing OC symptoms in schizophrenia patients receiving AAP treatment.
      Title: Interaction between genetic variants of DLGAP3 and SLC1A1 affecting the risk of atypical antipsychotics-induced obsessive-compulsive symptoms.
    5. This study generated preliminary evidence to link SAPAP3 variants to the development of earlier onset obsessive-compulsive disorder.
      Title: Investigating SAPAP3 variants in the etiology of obsessive-compulsive disorder and trichotillomania in the South African white population.
    6. DLGAP3 remains a promising candidate gene for Tourette Syndrome.
      Title: Family-based genetic association study of DLGAP3 in Tourette Syndrome.
    7. Sapap3 is a promising functional candidate gene for human grooming disorder (obsessive compulsive disorder).
      Title: Sapap3 and pathological grooming in humans: Results from the OCD collaborative genetics study.
    8. Multiple rare SAPAP3 missense variants in trichotillomania and OCD.
      Title: Multiple rare SAPAP3 missense variants in trichotillomania and OCD.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Sapap3 and pathological grooming in humans: Results from the OCD collaborative genetics study.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables amyloid-beta binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in modification of postsynaptic structure IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in modulation of chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in modulation of chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signaling IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cholinergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in glutamatergic synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in neuromuscular junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in postsynaptic specialization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    disks large-associated protein 3
    Names
    DAP-3
    PSD-95/SAP90-binding protein 3
    SAP90/PSD-95-associated protein 3
    discs large homolog associated protein 3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001080418.3 → NP_001073887.1  disks large-associated protein 3

      See identical proteins and their annotated locations for NP_001073887.1

      Status: VALIDATED

      Source sequence(s)
      AC114490, AL122010
      Consensus CDS
      CCDS30670.1
      UniProtKB/Swiss-Prot
      O95886, Q5TDD5, Q9H3X7
      Related
      ENSP00000362444.1, ENST00000373347.6
      Conserved Domains (1) summary
      pfam03359
      Location:628 → 979
      GKAP; Guanylate-kinase-associated protein (GKAP) protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      34865436..34929650 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541879.3 → XP_011540181.1  disks large-associated protein 3 isoform X1

      See identical proteins and their annotated locations for XP_011540181.1

      UniProtKB/Swiss-Prot
      O95886, Q5TDD5, Q9H3X7
      Conserved Domains (1) summary
      pfam03359
      Location:628 → 979
      GKAP; Guanylate-kinase-associated protein (GKAP) protein

    2. XM_047426631.1 → XP_047282587.1  disks large-associated protein 3 isoform X1

      UniProtKB/Swiss-Prot
      O95886, Q5TDD5, Q9H3X7

    3. XM_011541880.3 → XP_011540182.1  disks large-associated protein 3 isoform X2

      Conserved Domains (1) summary
      pfam03359
      Location:131 → 482
      GKAP; Guanylate-kinase-associated protein (GKAP) protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      34728067..34792309 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338001.1 → XP_054193976.1  disks large-associated protein 3 isoform X1

    2. XM_054338002.1 → XP_054193977.1  disks large-associated protein 3 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95886.3 GenPept UniProtKB/Swiss-Prot:O95886

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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